Post Doctoral Fellowships
Carolyn Ellaway, Ph.D.
The Childrenís Hospital at Westmead, Sydney, Australia
"Assessment of Central Autonomic Nervous System Function in Rett Syndrome"
Mentor: John Christodoulou, Ph.D.
2-Year Award: $88,000
Lay Progress Report (August 2002)
Start Date: October 2001
Duration: 2 years
The future of Rett syndrome research will be directed towards understanding the underlying pathogenesis of the disorder and the development of specific treatments, ideally prior to the onset of symptoms or early in the evolution of the disorder. It is therefore vitally important to establish objective methods for assessment of the clinical status of patients with Rett syndrome, prior to commencement of clinical trials and to be able to accurately monitor changes over time. The central autonomic nervous system, which controls the activity of the nerves controlling the function of the heart and lungs has been shown to function abnormally in Rett syndrome subjects. The abnormalities include irregular breathing patterns, extreme agitation with large pupils and flushed face, vacant spells, abnormal brain wave activity, seizures and poor circulation. A relatively new instrument for evaluating the central autonomic nervous system, the NeuroscopeTM can measure and monitor the activity of the central autonomic nervous system. Information derived from the assessment of the autonomic nervous system will provide a valuable tool for monitoring Rett syndrome patients during clinical treatment studies.
The main aim of my study is to establish the methods for assessing and monitoring central autonomic nervous system function in Rett syndrome patients.
The first six months of my Rett Syndrome Postdoctoral Research Fellowship involved the preparation and submission of my research application to the Ethics and Scientific Advisory Committees of the Childrenís Hospital at Westmead. In December 2001 the two committees approved the project. The NeuroscopeTM was then ordered and delivered in February 2002. Dr Peter Julu visited Sydney at the time and I commenced the intensive training program required to utilise the equipment. The training program continued for an additional week with Dr Peter Julu at the Central Middlesex Hospital, London. During my visit to London I also attended a two-day meeting held at The Institute of Child Health, Great Ormond Street Hospital, London. The meeting was entitled ìProviding for People with Rett syndromeî and chaired by the Dr Alison Kerr. The trip to London was funded by The Childrenís Hospital at Westmead.
I have now recruited ten females with Rett syndrome to have central autonomic nervous system monitoring, ranging in age from 4 years to 18 years. The procedure is quite time consuming as the actual monitoring takes at least one hour and the set up procedure can take up to 30 minutes or longer. There have been a few minor technical problems which have delayed progress, but which I hope have now been corrected. The data analysis is complex and can take up to four hours per patient. It appears that the families of my Rett syndrome patients are very keen to be involved in the research project.
I will be taking maternity leave from the end of August 2002, so the research project will be suspended until I return to work next year some time.
Carolyn Ellaway, Ph.D.The Childrenís Hospital at Westmead, Sydney, Australia
"Assessment of Central Autonomic Nervous System Function in Rett Syndrome"
Mentor: John Christodoulou, Ph.D.
2-Year Award: $88,000
Lay Progress Report (August 2002)
Start Date: October 2001
Duration: 2 years
The future of Rett syndrome research will be directed towards understanding the underlying pathogenesis of the disorder and the development of specific treatments, ideally prior to the onset of symptoms or early in the evolution of the disorder. It is therefore vitally important to establish objective methods for assessment of the clinical status of patients with Rett syndrome, prior to commencement of clinical trials and to be able to accurately monitor changes over time. The central autonomic nervous system, which controls the activity of the nerves controlling the function of the heart and lungs has been shown to function abnormally in Rett syndrome subjects. The abnormalities include irregular breathing patterns, extreme agitation with large pupils and flushed face, vacant spells, abnormal brain wave activity, seizures and poor circulation. A relatively new instrument for evaluating the central autonomic nervous system, the NeuroscopeTM can measure and monitor the activity of the central autonomic nervous system. Information derived from the assessment of the autonomic nervous system will provide a valuable tool for monitoring Rett syndrome patients during clinical treatment studies.
The main aim of my study is to establish the methods for assessing and monitoring central autonomic nervous system function in Rett syndrome patients.
The first six months of my Rett Syndrome Postdoctoral Research Fellowship involved the preparation and submission of my research application to the Ethics and Scientific Advisory Committees of the Childrenís Hospital at Westmead. In December 2001 the two committees approved the project. The NeuroscopeTM was then ordered and delivered in February 2002. Dr Peter Julu visited Sydney at the time and I commenced the intensive training program required to utilise the equipment. The training program continued for an additional week with Dr Peter Julu at the Central Middlesex Hospital, London. During my visit to London I also attended a two-day meeting held at The Institute of Child Health, Great Ormond Street Hospital, London. The meeting was entitled ìProviding for People with Rett syndromeî and chaired by the Dr Alison Kerr. The trip to London was funded by The Childrenís Hospital at Westmead.
I have now recruited ten females with Rett syndrome to have central autonomic nervous system monitoring, ranging in age from 4 years to 18 years. The procedure is quite time consuming as the actual monitoring takes at least one hour and the set up procedure can take up to 30 minutes or longer. There have been a few minor technical problems which have delayed progress, but which I hope have now been corrected. The data analysis is complex and can take up to four hours per patient. It appears that the families of my Rett syndrome patients are very keen to be involved in the research project.
I will be taking maternity leave from the end of August 2002, so the research project will be suspended until I return to work next year some time.